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1.
GIMAP5 deficiency reveals a mammalian ceramide-driven longevity assurance pathway.
Nat Immunol
; 25(2): 282-293, 2024 Feb.
Article
in English
| MEDLINE | ID: mdl-38172257
2.
Author Correction: GIMAP5 deficiency reveals a mammalian ceramide-driven longevity assurance pathway.
Nat Immunol
; 25(4): 717, 2024 Apr.
Article
in English
| MEDLINE | ID: mdl-38347083
3.
Germline IKAROS dimerization haploinsufficiency causes hematologic cytopenias and malignancies.
Blood
; 137(3): 349-363, 2021 01 21.
Article
in English
| MEDLINE | ID: mdl-32845957
4.
Curation and expansion of Human Phenotype Ontology for defined groups of inborn errors of immunity.
J Allergy Clin Immunol
; 149(1): 369-378, 2022 01.
Article
in English
| MEDLINE | ID: mdl-33991581
5.
Low Density Granulocytes and Dysregulated Neutrophils Driving Autoinflammatory Manifestations in NEMO Deficiency.
J Clin Immunol
; 42(3): 582-596, 2022 04.
Article
in English
| MEDLINE | ID: mdl-35028801
6.
Novel Frameshift Autosomal Recessive Loss-of-Function Mutation in SMARCD2 Encoding a Chromatin Remodeling Factor Mediates Granulopoiesis.
J Clin Immunol
; 41(1): 59-65, 2021 01.
Article
in English
| MEDLINE | ID: mdl-33025377
7.
Genomic Spectrum and Phenotypic Heterogeneity of Human IL-21 Receptor Deficiency.
J Clin Immunol
; 41(6): 1272-1290, 2021 08.
Article
in English
| MEDLINE | ID: mdl-33929673
8.
Polymerase-δ-deficiency as a novel cause of inborn cancer predisposition associated with human papillomavirus infection.
Br J Dermatol
; 188(5): 684-685, 2023 04 20.
Article
in English
| MEDLINE | ID: mdl-36787285
9.
Unreported Missense Mutation in the Dimerization Domain of ADA2 Leads to ADA2 Deficiency Associated with Severe Oral Ulcers and Neutropenia in a Female Somalian Patient-Addendum to the Genotype-Phenotype Puzzle.
J Clin Immunol
; 40(1): 223-226, 2020 01.
Article
in English
| MEDLINE | ID: mdl-31686313
10.
F-BAR domain only protein 1 (FCHO1) deficiency is a novel cause of combined immune deficiency in human subjects.
J Allergy Clin Immunol
; 143(6): 2317-2321.e12, 2019 06.
Article
in English
| MEDLINE | ID: mdl-30822429
11.
Ratanhiaphenol III from Ratanhiae radix is a PTP1B inhibitor.
Planta Med
; 78(7): 678-81, 2012 May.
Article
in English
| MEDLINE | ID: mdl-22307937
12.
Case Report of a Novel NFkB Mutation in a Lymphoproliferative Disorder Patient.
Endocr Metab Immune Disord Drug Targets
; 22(10): 1040-1046, 2022.
Article
in English
| MEDLINE | ID: mdl-35392793
13.
BCGitis as the primary manifestation of chronic granulomatous disease.
IDCases
; 23: e01038, 2021.
Article
in English
| MEDLINE | ID: mdl-33425681
14.
Novel BTK mutation in X-linked agammaglobulinemia: Report of a 17-year-old male
Allergol. immunopatol
; 49(2): 80-83, mar. 2021. ilus, tab
Article
in English
| IBECS (Spain) | ID: ibc-214242
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